Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 5:147828022 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM016009

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB SPINK1_194G_A_061411

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, is associated with 1 phenotype and is mentioned in 6 citations.

Variant displays